Linked Data
ClinVar Variation Id:
1115292
ClinVar RCV Id:
RCV001443281
dbSNP Id:
rs184262856
ExAC:
16:30198005 C / T
gnomAD v2:
16-30198005-C-T
gnomAD v3:
16-30186684-C-T
gnomAD v4:
16-30186684-C-T
COSMIC:
COSM6079109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186684C>T , CM000678.2:g.30186684C>T | GRCh38 |
| NC_000016.9:g.30198005C>T , CM000678.1:g.30198005C>T | GRCh37 |
| NC_000016.8:g.30105506C>T | NCBI36 |
| NG_023415.1:g.8080C>T , LRG_195:g.8080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.271C>T | ||
| ENST00000219150.10:c.285C>T MANE Select | ENSP00000219150.6:p.Asn95= | |
| ENST00000219150.9:c.285C>T | ENSP00000219150.5:p.Asn95= | |
| ENST00000561815.5:c.393C>T | ENSP00000456756.1:p.Asn131= | |
| ENST00000563778.5:c.285C>T | ENSP00000456266.1:p.Asn95= | |
| ENST00000564768.1:n.3C>T | ||
| ENST00000565497.5:c.285C>T | ENSP00000456457.1:p.Asn95= | |
| ENST00000567034.5:n.753C>T | ||
| ENST00000568763.1:n.1597C>T | ||
| ENST00000568982.5:n.403C>T | ||
| ENST00000569203.5:c.285C>T | ENSP00000454752.1:p.Asn95= | |
| ENST00000569469.1:n.395C>T | ||
| ENST00000569970.1:c.285C>T | ENSP00000457509.1:p.Asn95= | |
| ENST00000570045.5:c.285C>T | ENSP00000455552.1:p.Asn95= | |
| ENST00000570244.5:c.199-132C>T | ENSP00000457332.1:n.199-132C>T | |
| NM_001193333.2:c.285C>T | NP_001180262.1:p.Asn95= | |
| NM_007074.3:c.285C>T | NP_009005.1:p.Asn95= | |
| XM_011545714.1:c.285C>T | XP_011544016.1:p.Asn95= | |
| XM_011545714.2:c.285C>T | XP_011544016.1:p.Asn95= | |
| XM_017022885.2:c.285C>T | XP_016878374.1:p.Asn95= | |
| XM_017022886.1:c.285C>T | XP_016878375.1:p.Asn95= | |
| NM_007074.4:c.285C>T MANE Select | NP_009005.1:p.Asn95= | |
| NM_001193333.3:c.285C>T | NP_001180262.1:p.Asn95= |